keyword
https://read.qxmd.com/read/37736367/clinical-and-genetic-findings-in-13-chinese-children-with-keratinopathic-ichthyosis
#1
JOURNAL ARTICLE
Zhou Yang, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma
IMPORTANCE: Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1 , KRT2 , or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex. OBJECTIVE: To analyze the clinical manifestations and gene mutations in Chinese patients with KPI. METHODS: Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method...
September 2023: Pediatric Investigation
https://read.qxmd.com/read/35887135/deep-phenotyping-of-superficial-epidermolytic-ichthyosis-due-to-a-recurrent-mutation-in-krt2
#2
JOURNAL ARTICLE
Yuika Suzuki, Takuya Takeichi, Kana Tanahashi, Yoshinao Muro, Yasushi Suga, Tomoo Ogi, Masashi Akiyama
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2 . In addition, we summarize previous reports on SEI patients with the identical mutation. One of the two patients had disease onset at the age of 7 months. The other patient's age of onset is unknown, but it was in childhood...
July 14, 2022: International Journal of Molecular Sciences
https://read.qxmd.com/read/35015925/analysis-of-the-structure-and-function-of-the-epidermal-barrier-in-patients-with-ichthyoses-clinical-and-electron-microscopical-investigations
#3
JOURNAL ARTICLE
R Fölster-Holst, C Naß, S Dähnhardt-Pfeiffer, S Freitag-Wolf
BACKGROUND: Ichthyoses are pathogenetically characterised by a pronounced disorder of the epidermal barrier. Clinically, hyperkeratosis, severe scaling and erythroderma are present on the entire integument. The time-consuming therapy includes daily baths and the application of skin care products to restore the epidermal barrier. OBJECTIVES AND METHODS: To enhance the knowledge about the structure and function of the epidermal barrier in ichthyoses, we conducted clinical, biophysical and electron microscopical measurements on 46 patients with ichthyoses, including autosomal recessive ichthyoses, keratinopathic ichthyoses, X-chromosomal recessive ichthyosis and Netherton syndrome...
January 11, 2022: Journal of the European Academy of Dermatology and Venereology: JEADV
https://read.qxmd.com/read/34396419/vitamin-d-status-in-distinct-types-of-ichthyosis-importance-of-genetic-type-and-severity-of-scaling
#4
JOURNAL ARTICLE
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth
Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were additionally analysed for parathyroid hormone. Vitamin D deficiency was pronounced in keratinopathic ichthyosis (n = 17; median 25(OH)D3: 10.5 ng/ml), harlequin ichthyosis (n = 2;7.0 ng/ml) and rare syndromic subtypes (n = 3; 7.0 ng/ml). Vitamin D levels were reduced in TG1-proficient lamellar ichthyosis (n = 15; 8...
September 15, 2021: Acta Dermato-venereologica
https://read.qxmd.com/read/34387055/an-unusual-case-of-keratinopathic-icthyosis-a-diagnostic-conundrum
#5
JOURNAL ARTICLE
Chandana Shajil, Dharshini Sathishkumar, Sumita Danda, Meera Thomas
Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ichthyoses (KI) in clinical practice. We report an intriguing case of KI presenting as generalized ichthyosis in a reticulate pattern surrounding islands of normal skin, epidermolytic hyperkeratosis and binucleate cells on histopathology, and heterozygous mutation in KRT10...
June 15, 2021: Dermatology Online Journal
https://read.qxmd.com/read/34273205/high-rate-of-self-improving-phenotypes-in-children-with-non-syndromic-congenital-ichthyosis-case-series-from-south-western-germany
#6
JOURNAL ARTICLE
L Frommherz, A Krause, J Kopp, A Hotz, S Hübner, A Reimer-Taschenbrecker, F Casetti, B Zirn, J Fischer, C Has
BACKGROUND: Non-syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging. OBJECTIVES: To determine clinical course and genotype-phenotype correlations in children affected by non-syndromic congenital ichthyosis in a case series from south-western Germany...
November 2021: Journal of the European Academy of Dermatology and Venereology: JEADV
https://read.qxmd.com/read/34199848/how-to-deal-with-skin-biopsy-in-an-infant-with-blisters
#7
REVIEW
Stéphanie Leclerc-Mercier
The onset of blisters in a neonate or an infant is often a source of great concern for both parents and physicians. A blistering rash can reveal a wide range of diseases with various backgrounds (infectious, genetic, autoimmune, drug-related, traumatic, etc.), so the challenge for the dermatologist and the pediatrician is to quickly determine the etiology, between benign causes and life-threatening disorders, for a better management of the patient. Clinical presentation can provide orientation for the diagnosis, but skin biopsy is often necessary in determining the cause of blister formations...
June 4, 2021: Dermatopathology (Basel, Switzerland)
https://read.qxmd.com/read/33562614/visualization-of-keratin-with-diffuse-reflectance-and-autofluorescence-imaging-and-nonlinear-optical-microscopy-in-a-rare-keratinopathic-ichthyosis
#8
JOURNAL ARTICLE
Pálma Anker, Luca Fésűs, Norbert Kiss, Judit Noll, Krisztina Becker, Enikő Kuroli, Balázs Mayer, Szabolcs Bozsányi, Kende Lőrincz, Ilze Lihacova, Alexey Lihachev, Marta Lange, Norbert Wikonkál, Márta Medvecz
Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different optical imaging methods. We used a newly developed light emitting diode (LED) based device to analyze autofluorescence signal at 405 nm excitation and diffuse reflectance at 526 nm in vivo. Mean autofluorescence intensity of the hyperkeratotic palmar skin was markedly higher in comparison to the healthy control (162...
February 5, 2021: Sensors
https://read.qxmd.com/read/33081034/first-case-of-krt2-epidermolytic-nevus-and-novel-clinical-and-genetic-findings-in-26-italian-patients-with-keratinopathic-ichthyoses
#9
JOURNAL ARTICLE
Andrea Diociaiuti, Daniele Castiglia, Marialuisa Corbeddu, Roberta Rotunno, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem
Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1 , KTR10 , or KRT2 genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial blisters and erosions in infancy and progressive development of hyperkeratosis. Histopathology shows epidermolytic hyperkeratosis. We describe the clinical, histopathological, and molecular findings of a series of 26 Italian patients from 19 unrelated families affected with (i) epidermolytic ichthyosis due to KRT1 or KRT10 mutations (7 and 9 cases, respectively); (ii) KTR10 -mutated ichthyosis with confetti (2 cases); (iii) KRT2 -mutated superficial epidermolytic ichthyosis (5 cases); and (iv) KRT10 -mutated epidermolytic nevus (2 cases)...
October 18, 2020: International Journal of Molecular Sciences
https://read.qxmd.com/read/32881395/the-first-case-of-a-mosaic-superficial-epidermolytic-ichthyosis-diagnosed-by-ultra-deep-sequence
#10
JOURNAL ARTICLE
Yue Li, Ruhong Cheng, Jianying Liang, Zhirong Yao, Ming Li
BACKGROUND: Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. 600194). Here, we report the first case of SEI caused by a KRT2 mosaic mutation. METHODS: We presented the clinical data of a 5-year-old Chinese boy who suffered from SEI. The histopathological examination and immunofluorescence were performed to rule out immunobullous skin diseases and diseases with subepidermal blisters...
November 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/31953843/next-generation-sequencing-through-multi-gene-panel-testing-for-diagnosis-of-hereditary-ichthyosis-in-chinese
#11
JOURNAL ARTICLE
Ruhong Cheng, Jianying Liang, Yue Li, Jia Zhang, Cheng Ni, Hong Yu, Xiangsheng Kong, Ming Li, Zhirong Yao
Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X-linked ichthyosis, were included in our study. Molecular analysis was performed using next-generation sequencing (NGS) through multi-gene panel testing targeting all ichthyosis-related genes. Genetic variants causative for the ichthyosis were identified in 32 of 35 investigated patients...
May 2020: Clinical Genetics
https://read.qxmd.com/read/31642606/spectrum-of-ichthyoses-in-an-austrian-ichthyosis-cohort-from-2004-to-2017
#12
JOURNAL ARTICLE
Magdalena Seidl-Philipp, Ulrich A Schatz, Irina Gasslitter, Verena Moosbrugger-Martinz, Stefan Blunder, Anna S Schossig, Johannes Zschocke, Matthias Schmuth, Robert Gruber
BACKGROUND: Ichthyoses are a heterogeneous disease group, which makes clinical classification challenging. An ichthyosis cohort at a center for genodermatoses is presented in detail. PATIENTS AND METHODS: Patients with clinically and/or genetically confirmed ichthyosis seen from 2004 to 2017 and listed in a database were included. Disease onset, phenotype, histology, comorbidities and family history were described in detail. In genetically tested patients, the prevalence of various ARCI genes, ARCI phenotypes and syndromic ichthyoses, as well as genotype-phenotype correlation and year/method of genetic testing was assessed...
January 2020: Journal der Deutschen Dermatologischen Gesellschaft: JDDG
https://read.qxmd.com/read/31062435/burden-of-itch-in-ichthyosis-a-multicentre-study-in-94-patients
#13
JOURNAL ARTICLE
A M De Palma, J Mazereeuw-Hautier, K Giehl, A Hernández, M Merlos, P Moons, M A Morren
BACKGROUND: From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis. OBJECTIVE: The objective of this study was to specifically address the burden of itch and all its dimensions in ichthyosis patients. METHODS: Ninety-four ichthyosis patients from four different centres were recruited to participate in this cross-sectional, questionnaire-based study...
May 6, 2019: Journal of the European Academy of Dermatology and Venereology: JEADV
https://read.qxmd.com/read/30288772/novel-and-recurrent-mutations-in-keratin-1-cause-epidermolytic-ichthyosis-and-palmoplantar-keratoderma
#14
JOURNAL ARTICLE
F J D Smith, I M Kreuser-Genis, C S Jury, N J Wilson, A Terron-Kwiatowski, M Zamiri
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Causative mutations in KRT1 and KRT10 have been described, with PPK being present primarily in association with the former...
July 2019: Clinical and Experimental Dermatology
https://read.qxmd.com/read/30036889/cryptotanshinone-from-salvia-miltiorrhiza-roots-reduces-cytokeratin-ck1-10-expression-in-keratinocytes-by-activation-of-peptidyl-prolyl-cis-trans-isomerase-fkbp1a
#15
JOURNAL ARTICLE
Stefan Esch, Simone König, Bertan Bopp, Joachim Jose, Simone Brandt, Andreas Hensel
Cryptotanshinone (CTS) (1 µM) from the roots of Salvia miltiorrhiza exerts a strong influence on the terminal differentiation of human keratinocytes (HaCaT cell line, primary natural human keratinocytes) and downregulates the expression of differentiation-specific cytokeratins CK1 and CK10 on protein and gene level. Other differentiation specific proteins as involucrin, filaggrin, loricrin, and transglutaminase were not affected to a higher extent. CTS (1 µM) did not influence the cell viability and the proliferation of keratinocytes...
May 2019: Planta Medica
https://read.qxmd.com/read/27349861/large-intragenic-krt1-deletion-underlying-atypical-autosomal-dominant-keratinopathic-ichthyosis
#16
LETTER
Takuya Takeichi, Lu Liu, Alya Abdul-Wahab, James R McMillan, Kristina L Stone, Masashi Akiyama, Michael A Simpson, Maddy Parsons, Jemima E Mellerio, John A McGrath
No abstract text is available yet for this article.
October 2016: Journal of Investigative Dermatology
https://read.qxmd.com/read/26945532/inherited-ichthyosis-non-syndromic-forms
#17
REVIEW
Takuya Takeichi, Masashi Akiyama
Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms...
March 2016: Journal of Dermatology
https://read.qxmd.com/read/26581228/expanding-the-clinical-and-genetic-spectrum-of-krt1-krt2-and-krt10-mutations-in-keratinopathic-ichthyosis
#18
JOURNAL ARTICLE
Alrun Hotz, Vinzenz Oji, Emmanuelle Bourrat, Nathalie Jonca, Juliette Mazereeuw-Hautier, Regina C Betz, Ulrike Blume-Peytavi, Karola Stieler, Fanny Morice-Picard, Ines Schönbuchner, Susanne Markus, Nina Schlipf, Judith Fischer
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants...
May 2016: Acta Dermato-venereologica
https://read.qxmd.com/read/26381864/ichthyosis-with-confetti-clinics-molecular-genetics-and-management
#19
REVIEW
Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia, Giovanna Zambruno
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic phenotype persists during life and its severity may modify. However, the hallmark of the disease is the appearance, in childhood or later in life, of healthy skin confetti-like spots, which increase in number and size with time...
September 17, 2015: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/24393603/prevalence-of-inherited-ichthyosis-in-france-a-study-using-capture-recapture-method
#20
JOURNAL ARTICLE
Isabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, Sophie Henner, Christine Chiavérini, Aude Maza, Sandrine Pascal, Lauriane Rodriguez, Pierre Vabres, Ludovic Martin, Stéphanie Mallet, Sébastien Barbarot, Jérôme Dupuis, Juliette Mazereeuw-Hautier
BACKGROUND: Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS: Capture - recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients...
January 6, 2014: Orphanet Journal of Rare Diseases
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